Article

NGS-based assay for frequent newborn inherited diseases: from development to implementation

2016-04-26

Abstract excerpt

<h4>ABSTRACT</h4> NGS is a powerful tool for the diagnostics of inherited diseases. A number of studies devoted to the development and validation of targeted NGS panels are published. Here we present not only development and validation of an assay, but report our experience on introduction of a new approach into the real clinical practice. The assay is intended for the diagnostics of frequent newborn inherited di...

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Literature Corpus work: 95972d7d-0bca-514e-aff9-e517b6099d16
DOI: 10.1101/050419

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